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Nbn nibrin [ Mus musculus (house mouse) ]

Gene ID: 27354, updated on 10-Oct-2019

Summary

Official Symbol
Nbnprovided by MGI
Official Full Name
nibrinprovided by MGI
Primary source
MGI:MGI:1351625
See related
Ensembl:ENSMUSG00000028224
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nbs1
Expression
Ubiquitous expression in bladder adult (RPKM 7.5), CNS E11.5 (RPKM 7.0) and 27 other tissues See more
Orthologs

Genomic context

See Nbn in Genome Data Viewer
Location:
4; 4 A2
Exon count:
16
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (15957587..15992589)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (15885114..15919736)

Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA17 Neighboring gene 2,4-dienoyl CoA reductase 1, mitochondrial Neighboring gene microRNA 6400 Neighboring gene oxidative stress induced growth inhibitor family member 2 Neighboring gene receptor (TNFRSF)-interacting serine-threonine kinase 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to DNA helicase activity ISO
Inferred from Sequence Orthology
more info
 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
DNA damage checkpoint ISO
Inferred from Sequence Orthology
more info
PubMed 
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA duplex unwinding ISO
Inferred from Sequence Orthology
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
blastocyst growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
isotype switching IDA
Inferred from Direct Assay
more info
PubMed 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
mitotic G2 DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic G2 DNA damage checkpoint ISO
Inferred from Sequence Orthology
more info
 
mitotic cell cycle checkpoint ISO
Inferred from Sequence Orthology
more info
 
negative regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of telomere capping ISO
Inferred from Sequence Orthology
more info
 
negative regulation of viral entry into host cell ISO
Inferred from Sequence Orthology
more info
 
neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of kinase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
 
signal transduction in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
t-circle formation ISO
Inferred from Sequence Orthology
more info
 
telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
telomere maintenance via telomere trimming ISO
Inferred from Sequence Orthology
more info
 
telomeric 3' overhang formation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Mre11 complex ISO
Inferred from Sequence Orthology
more info
 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
PML body ISO
Inferred from Sequence Orthology
more info
 
chromosome IEA
Inferred from Electronic Annotation
more info
 
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
nuclear inclusion body ISO
Inferred from Sequence Orthology
more info
 
nucleolus ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
replication fork IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
nibrin
Names
cell cycle regulatory protein p95
nijmegen breakage syndrome protein 1 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013752.3NP_038780.3  nibrin

    See identical proteins and their annotated locations for NP_038780.3

    Status: VALIDATED

    Source sequence(s)
    BC013190, BC055061
    Consensus CDS
    CCDS17986.1
    UniProtKB/Swiss-Prot
    Q9R207
    Related
    ENSMUSP00000029879.8, ENSMUST00000029879.14
    Conserved Domains (4) summary
    cd00027
    Location:114182
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cd00060
    Location:1109
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam08599
    Location:681743
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:217325
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000070.6 Reference GRCm38.p6 C57BL/6J

    Range
    15957587..15992589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006537970.3XP_006538033.1  nibrin isoform X3

    See identical proteins and their annotated locations for XP_006538033.1

    Conserved Domains (2) summary
    pfam08599
    Location:530592
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  2. XM_006537971.2XP_006538034.1  nibrin isoform X3

    See identical proteins and their annotated locations for XP_006538034.1

    Conserved Domains (2) summary
    pfam08599
    Location:530592
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  3. XM_030253594.1XP_030109454.1  nibrin isoform X2

  4. XM_030253593.1XP_030109453.1  nibrin isoform X2

  5. XM_030253592.1XP_030109452.1  nibrin isoform X1

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